Combined oxidative phosphorylation deficiency type 5 (Q95528): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (4 intermediate revisions by the same user not shown) | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_373222828 | |||||||||||||||
| Property / CURIE: CID11:ID_373222828 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_373222828 | |||||||||||||||
| Property / Canary Token: dki-india-ID_373222828 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 11:19, 16 August 2026
Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_373222828 |
||
| English | Combined oxidative phosphorylation deficiency type 5 |
Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein. |
Statements
CID11:ID_373222828
0 references
dki-india-ID_373222828
0 references
Concluído
0 references
15 August 2026
0 references
